[Carrier detection in relatives of patients with cystic fibrosis and their partners].
In the clinical genetics centres of Groningen and Rotterdam carrier detection by means of DNA analysis was performed in 55 relatives of cystic fibrosis patients at their request; 32 of them were siblings, 22 were uncles and aunts, and one was a first cousin. In 31 of them carriership could be demonstrated. Carrier detection was also performed in 23 of their partners, in 3 partners of female CF patients, and in 4 AI donors. In one of the partners of the carriers carriership was demonstrated also. This is the first couple in The Netherlands to whom information on the 25% risk of CF in a future child and on the corresponding reproductive options could be given prior to the birth of a first affected child. Since not all mutations of the CF gene are detectable with present methods, carrier detection still has its restrictions, which are discussed.
ten Kate
L P
LP
Rijksuniversiteit, Vakgroep Medische Genetica, Groningen.
Scheffer
H
H
Halley
D J
DJ
Niermeijer
M F
MF
D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree
D005819:Genetic Markers
Dragerschaponderzoek bij verwanten van patiënten met cystische fibrose en bij hun partners.